X-linked infantile spinal muscular atrophy

Four male infants from three sibships in an extended family were noted to have hypotonia, areflexia, and congenital joint contractures. The findings of electromyography and muscle histology were consistent with infantile spinal muscular atrophy (SMA). Pedigree analysis suggests that this disorder re...

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Bibliographic Details
Published inAmerican journal of diseases of children (1960) Vol. 142; no. 2; p. 217
Main Authors Greenberg, F, Fenolio, K R, Hejtmancik, J F, Armstrong, D, Willis, J K, Shapira, E, Huntington, H W, Haun, R L
Format Journal Article
LanguageEnglish
Published United States 01.02.1988
Subjects
Biopsy
Genes, Recessive
Genetic Linkage
Humans
Infant, Newborn
Male
Muscles - pathology
Muscular Atrophy, Spinal - genetics
Pedigree
Spinal Muscular Atrophies of Childhood - genetics
Spinal Muscular Atrophies of Childhood - pathology
X Chromosome
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Summary:Four male infants from three sibships in an extended family were noted to have hypotonia, areflexia, and congenital joint contractures. The findings of electromyography and muscle histology were consistent with infantile spinal muscular atrophy (SMA). Pedigree analysis suggests that this disorder represents an X-linked, recessive form of SMA. Findings in similar kindreds may explain the previously reported increased male-female ratio in infantile SMA.
ISSN:0002-922X
DOI:10.1001/archpedi.1988.02150020119045